Browsing "1. Journal Papers" by Author : 4670

All A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:
  • Sort by:
  • In order:
  • Results/Page
  • Authors/Record:

Showing results 1 to 8 of 8

This table browses all dspace content
Issue DateTitleJournal Title
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2020Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis MOLECULAR VISION
2017Diagnostic application of clinical exome sequencing in Leber congenital amaurosis MOLECULAR VISION
2022Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy FRONTIERS IN NEUROLOGY
2021In Silico identification of a common mobile element insertion in exon 4 of RP1 SCIENTIFIC REPORTS
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2020Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma HAEMATOLOGICA
1

Browse

Links